| Primary Identifier | IPR031134 | Type | Family |
| Short Name | RPGRIP1 |
| description | Retinitis pigmentosa GTPase regulator-interacting protein 1 (RPGRIP1) specifically interacts with retinitis pigmentosa GTPase regulator (RPGR) []. Mutations in RPGR cause X-linked retinitis pigmentosa type 3 (RP3), whereas mutations in RPGRIP1 cause Leber congenital amaurosis (LCA) []. RPGRIP1 is expressed in the retina and is present in the connecting cilium and outer segments of photoreceptors, where it partially co-localises with RPGR [, ]. RPGR isoforms seem to determine the subcellular targeting of RPGRIP1 []. |
